• Gene id: 56776

Gene Summary

• Gene Symbol: FMN2   Gene   UCSC   Ensembl
• Gene name: formin 2
• Alternate names: formin-2,
• Gene location: 1q43 (240091882: 240475186)     Exons: 23     NC_000001.11
• Gene summary(Entrez): This gene is a member of the formin homology protein family. The encoded protein is thought to have essential roles in organization of the actin cytoskeleton and in cell polarity. This protein mediates the formation of an actin mesh that positions the spi
• OMIM: 605256

Protein Summary

• Protein general information: Q9NZ56  
  • Name: Formin 2
  • Length: 1722  
  • Mass: 180106
  • Tissue specificity: Expressed almost exclusively in the developing and mature central nervous system. {ECO
• Sequence:

  MGNQDGKLKRSAGDALHEGGGGAEDALGPRDVEATKKGSGGKKALGKHGKGGGGGGGGGESGKKKSKSDSRASVF
  SNLRIRKNLSKGKGAGGSREDVLDSQALQTGELDSAHSLLTKTPDLSLSADEAGLSDTECADPFEVTGPGGPGPA
  EARVGGRPIAEDVETAAGAQDGQRTSSGSDTDIYSFHSATEQEDLLSDIQQAIRLQQQQQQQLQLQLQQQQQQQQ
  LQGAEEPAAPPTAVSPQPGAFLGLDRFLLGPSGGAGEAPGSPDTEQALSALSDLPESLAAEPREPQQPPSPGGLP
  VSEAPSLPAAQPAAKDSPSSTAFPFPEAGPGEEAAGAPVRGAGDTDEEGEEDAFEDAPRGSPGEEWAPEVGEDAP
  QRLGEEPEEEAQGPDAPAAASLPGSPAPSQRCFKPYPLITPCYIKTTTRQLSSPNHSPSQSPNQSPRIKRRPEPS
  LSRGSRTALASVAAPAKKHRADGGLAAGLSRSADWTEELGARTPRVGGSAHLLERGVASDSGGGVSPALAAKASG
  APAAADGFQNVFTGRTLLEKLFSQQENGPPEEAEKFCSRIIAMGLLLPFSDCFREPCNQNAQTNAASFDQDQLYT
  WAAVSQPTHSLDYSEGQFPRRVPSMGPPSKPPDEEHRLEDAETESQSAVSETPQKRSDAVQKEVVDMKSEGQATV
  IQQLEQTIEDLRTKIAELERQYPALDTEVASGHQGLENGVTASGDVCLEALRLEEKEVRHHRILEAKSIQTSPTE
  EGGVLTLPPVDGLPGRPPCPPGAESGPQTKFCSEISLIVSPRRISVQLDSHQPTQSISQPPPPPSLLWSAGQGQP
  GSQPPHSISTEFQTSHEHSVSSAFKNSCNIPSPPPLPCTESSSSMPGLGMVPPPPPPLPGMTVPTLPSTAIPQPP
  PLQGTEMLPPPPPPLPGAGIPPPPPLPGAGILPLPPLPGAGIPPPPPLPGAAIPPPPPLPGAGIPLPPPLPGAGI
  PPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGA
  GIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGVGIPPPPPLPGAGIPPPPPLP
  GAGIPPPPPLPGAGIPPPPPLPRVGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGVGIPPPPPLPGVGIPPPPP
  LPGAGIPPPPPLPGMGIPPAPAPPLPPPGTGIPPPPLLPVSGPPLLPQVGSSTLPTPQVCGFLPPPLPSGLFGLG
  MNQDKGSRKQPIEPCRPMKPLYWTRIQLHSKRDSSTSLIWEKIEEPSIDCHEFEELFSKTAVKERKKPISDTISK
  TKAKQVVKLLSNKRSQAVGILMSSLHLDMKDIQHAVVNLDNSVVDLETLQALYENRAQSDELEKIEKHGRSSKDK
  ENAKSLDKPEQFLYELSLIPNFSERVFCILFQSTFSESICSIRRKLELLQKLCETLKNGPGVMQVLGLVLAFGNY
  MNGGNKTRGQADGFGLDILPKLKDVKSSDNSRSLLSYIVSYYLRNFDEDAGKEQCLFPLPEPQDLFQASQMKFED
  FQKDLRKLKKDLKACEVEAGKVYQVSSKEHMQPFKENMEQFIIQAKIDQEAEENSLTETHKCFLETTAYFFMKPK
  LGEKEVSPNAFFSIWHEFSSDFKDFWKKENKLLLQERVKEAEEVCRQKKGKSLYKIKPRHDSGIKAKISMKT

• Structural information:
  • Protein Domains: (758..126-)
    (/note="FH1-)
    (1283..169-)
    (/note="FH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00774"-)
  • Interpro: IPR000591  IPR015425  IPR042201  IPR009408  
  • Prosite: PS51444
  • PDB: 2YLE 3R7G
  • PDBsum: 2YLE 3R7G
  • STRING: ENSP00000318884
• Other Databases: GeneCards:  FMN2  Malacards:  FMN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046907	intracellular transport	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0070649	formin-nucleated actin cable assembly	IDA	biological process
GO:0015629	actin cytoskeleton	IDA	colocalizes with
GO:0005829	cytosol	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0003779	actin binding	IDA	molecular function
GO:2000781	positive regulation of double-strand break repair	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0071456	cellular response to hypoxia	IMP	biological process
GO:0070649	formin-nucleated actin cable assembly	ISS	biological process
GO:0046907	intracellular transport	ISS	biological process
GO:0042177	negative regulation of protein catabolic process	IMP	biological process
GO:0030659	cytoplasmic vesicle membrane	ISS	cellular component
GO:0016192	vesicle-mediated transport	ISS	biological process
GO:0005938	cell cortex	ISS	cellular component
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005902	microvillus	IEA	cellular component
GO:0005938	cell cortex	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0016344	meiotic chromosome movement towards spindle pole	IEA	biological process
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0040038	polar body extrusion after meiotic divisions	IEA	biological process
GO:0046907	intracellular transport	IEA	biological process
GO:0048477	oogenesis	IEA	biological process
GO:0051295	establishment of meiotic spindle localization	IEA	biological process
GO:0070649	formin-nucleated actin cable assembly	IEA	biological process
GO:0005819	spindle	IEA	cellular component
GO:0051017	actin filament bundle assembly	IEA	biological process
GO:0051758	homologous chromosome movement towards spindle pole in meiosis I anaphase	IEA	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0040038	polar body extrusion after meiotic divisions	ISS	biological process
GO:0048477	oogenesis	ISS	biological process
GO:0051295	establishment of meiotic spindle localization	ISS	biological process
GO:0051758	homologous chromosome movement towards spindle pole in meiosis I anaphase	ISS	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005938	cell cortex	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	IMP	biological process

Diseases

Associated diseases	References
Autosomal recessive mental retardation	KEGG:H00768
Autosomal recessive mental retardation	KEGG:H00768
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq